A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640309



Internal ID7027084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28413931..28418356hg38UCSC Ensembl
chr17:26740949..26745374hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg384426
hg194426
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15655854, essv15655845, essv15655842, essv15655850, essv15655853, essv15655858, essv15655841, essv15655857, essv15655848, essv15655849, essv15655856, essv15655846, essv15655843, essv15655852, essv15655855, essv15655860, essv15655859, essv15655847, essv15655851, essv15655844
SamplesHG02610, HG00102, HG02973, HG01486, NA12413, HG02146, NA07048, HG01761, NA20287, HG00232, NA19789, HG01784, HG00183, NA20770, HG01049, HG00276, HG01444, NA19749, HG03565, NA07056
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640309
Frequency
Sample Size2504
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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